Mei Mei and Hypophosphatasia
When you adopt a child internationally, your child has blood drawn and a series of tests are run on that blood. Mei Mei had 10 vials of blood taken (don't worry the appropriate calculations were done to make sure that they didn't take too much from out tiny tot). The doctor was worried about a syndrome that might have caused the club hands and club feet along with her short stature.
From there we saw a cardiologist to "rule out" any heart issues associated with the syndrome the pediatrician was worried about. Heart is healthy. Nothing to worry about.
Then we went for more blood and full body x-rays. Then we went to the dentist. All of this because we have learned that Mei Mei does not have the syndrome, but rather has a rare genetic bone disease called Hypophosphatasia. It's so rare that only 1 in 100,000 children are diagnosed with it. However, the belief is that there are untold numbers with the disease who go undiagnosed or misdiagnosed. Certainly in rural China, they are undiagnosed. Mei Mei's birth parent (who also has the disease) has no idea that he or she has it.
The reason I am writing about it is to share our story so that maybe, if this sounds like you, or someone you know, then perhaps a doctor visit is in order. Since it is so rare, and it is often misdiagnosed, I feel that it is good to share this information.
We don't know much yet. And frankly, neither does the medical community. But we are learning. Our pediatrician is beyond amazing that she figured it out. She has coordinated our daughter's care with a multitude of specialists making some appointments for us herself. Our pediatric dentist has seen one other case when he was in his internship. He went so far as to say, "I couldn't figure out why I was working on this child's case since it was so rare. And today, I now know why."
It is not associated with clubbed hands and feet. That is coincidence. Here is what is happening to Mei Mei as a result of this disease. She is losing her baby teeth. Two are gone already and a third is wiggly. The Tooth Fairy will be making an appearance soon and she will have to make up for the first two teeth since she doesn't visit Foster Homes in China. She has two teeth that are growing in fused together. So far, only her bottom front teeth are loose and the others are solid. It looks like adult teeth are not impacted by the disease.
Mei Mei could have spinal issues. She has curved bones, which are part of the disease. She may have soft bones which break easily. So, when she hurts herself, if she complains of pain, we will have a low threshold for getting x-rays. It may extend her club foot and hand treatment since extra care will need to be taken with her bones and their structure. There is no cure and no treatment. She will see orthopedists, endocrinologists, dentists, her pediatrician, lab technicians, x-ray technicians, potentially research doctors, pain specialists and physical therapists.
Mei Mei will not live in a bubble. She will be given opportunities to fall down and skin her knees. With her personality, if we didn't give her the opportunities, she would find them herself. She will come at life full throttle and we don't plan to get in her way. I could not be more grateful to be her Mama. She is an absolute gift and I'm so excited to watch her grow up. She is going to be a dynamo hurling herself at life head first.
As we learn more about this disease, I will be sharing the information. I hope that it is helpful to you. If you are an adoptive parent considering skipping the blood tests, please don't. They are more than just titers for Chinese vaccinations. They tell your child's story.
From there we saw a cardiologist to "rule out" any heart issues associated with the syndrome the pediatrician was worried about. Heart is healthy. Nothing to worry about.
Then we went for more blood and full body x-rays. Then we went to the dentist. All of this because we have learned that Mei Mei does not have the syndrome, but rather has a rare genetic bone disease called Hypophosphatasia. It's so rare that only 1 in 100,000 children are diagnosed with it. However, the belief is that there are untold numbers with the disease who go undiagnosed or misdiagnosed. Certainly in rural China, they are undiagnosed. Mei Mei's birth parent (who also has the disease) has no idea that he or she has it.
The reason I am writing about it is to share our story so that maybe, if this sounds like you, or someone you know, then perhaps a doctor visit is in order. Since it is so rare, and it is often misdiagnosed, I feel that it is good to share this information.
We don't know much yet. And frankly, neither does the medical community. But we are learning. Our pediatrician is beyond amazing that she figured it out. She has coordinated our daughter's care with a multitude of specialists making some appointments for us herself. Our pediatric dentist has seen one other case when he was in his internship. He went so far as to say, "I couldn't figure out why I was working on this child's case since it was so rare. And today, I now know why."
It is not associated with clubbed hands and feet. That is coincidence. Here is what is happening to Mei Mei as a result of this disease. She is losing her baby teeth. Two are gone already and a third is wiggly. The Tooth Fairy will be making an appearance soon and she will have to make up for the first two teeth since she doesn't visit Foster Homes in China. She has two teeth that are growing in fused together. So far, only her bottom front teeth are loose and the others are solid. It looks like adult teeth are not impacted by the disease.
Mei Mei could have spinal issues. She has curved bones, which are part of the disease. She may have soft bones which break easily. So, when she hurts herself, if she complains of pain, we will have a low threshold for getting x-rays. It may extend her club foot and hand treatment since extra care will need to be taken with her bones and their structure. There is no cure and no treatment. She will see orthopedists, endocrinologists, dentists, her pediatrician, lab technicians, x-ray technicians, potentially research doctors, pain specialists and physical therapists.
Mei Mei will not live in a bubble. She will be given opportunities to fall down and skin her knees. With her personality, if we didn't give her the opportunities, she would find them herself. She will come at life full throttle and we don't plan to get in her way. I could not be more grateful to be her Mama. She is an absolute gift and I'm so excited to watch her grow up. She is going to be a dynamo hurling herself at life head first.
As we learn more about this disease, I will be sharing the information. I hope that it is helpful to you. If you are an adoptive parent considering skipping the blood tests, please don't. They are more than just titers for Chinese vaccinations. They tell your child's story.
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